The term differences of sex development (DSDs; also known as disorders of sex
development) refers to a heterogeneous group of congenital conditions affecting human sex …

Azoospermia affects 1% of men, and it can be due to:(i) hypothalamic-pituitary
dysfunction,(ii) primary quantitative spermatogenic disturbances,(iii) urogenital duct …

Despite being collectively among the most frequent congenital developmental conditions
worldwide, differences of sex development (DSD) lack recognition and research funding. As …

Steroid hormone receptors are ligand-binding transcription factors essential for mammalian
physiology. The androgen receptor (AR) binds androgens mediating gene expression for …

Disorders of sex development (DSDs) are conditions affecting development of the gonads or
genitalia. Variants in two key genes, SRY and its target SOX9, are an established cause of …

The differential diagnosis of differences or disorders of sex development (DSD) belongs to
the most complex fields in medicine. It requires a multidisciplinary team conducting a …

Differences/disorders of sex development (DSD) are a heterogeneous group of congenital
conditions that result in discordance between an individual's sex chromosomes, gonads …

Male sex differentiation is driven by 2 hormones, testosterone and anti-müllerian hormone
(AMH), responsible for the regression of müllerian ducts in male fetuses. Mutations …

The reproductive endocrine systems are vastly different between males and females. This
sexual dimorphism of the endocrine milieu originates from sex-specific differentiation of the …

It is paramount that any child or adolescent with a suspected difference or disorder of sex
development (DSD) is assessed by an experienced clinician with adequate knowledge …